Delayed Puberty

Posted by e-Medical PPT Monday, November 12, 2012
Development & maturation of the reproductive system begins in fetal life & is an active process.
Puberty begins with increased pulsatile secretion of Gonadotropin releasing hormone ( GnRH ) from the hypothalamus ,increased pituitary hormones , gonadal maturation, increasing production of sex steroids.
Secondary sexual characteristics, acceleration of growth ,ultimate fertility.
Timing of puberty ??

Delayed Puberty
Delay of more than 2-3 standard deviations from the mean age of pubertal onset.
Delayed : no sexual maturity by 14 years in boys & 13 years in girls.
Absence of menarche by 16 years of age ,or within 5 years of pubertal onset.
Pubertal development begins ,but progression stalls,the duration of a given characteristic is longer than expected.
2.5 % of adolescents .
Most are boys.
Most will be found to have no pathology , and will have normal progression of puberty as soon as it starts.
A variety of causes that can be diagnosed with proper evaluation.

Constitutional Delay
Constitutional delay explains 90-95 % of pubertal delay.
It is a normal variant that results from persistence of the prepubertal hypogonadotropic state.
Typically, 14-15 year old boy presents after most of his peers have begun puberty.
Boys present more often than girls.
It may be superimposed on constitutional short stature.

Isolated Gonadotropin Deficiencies (Kallman Syndrome)
Heterogeneous in presentation, difficult to distinguish from constitutional delay.
More in boys .
Associated with anosmia.
KAL-1 gene.
Examination may be normal apart from a small phallus & testes.
Delayed bone age is the only consistent finding.

Bilateral Gonadal Failure
Markedly elevated serum gonadotropins.
Congenital :
Turner Syndrome
Klinefelter Syndrome
Other congenital & acquired causes are rare.

Other Congenital Syndromes
Androgen Resistance.
Prader- Willi Syndrome.
Laurence- Moon & Bardet-Biedl Syndrome.
Noonan Syndrome.
Vanishing Testes Syndrome
Resistant Ovaries Syndrome.
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